Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: an X-linked disorder?
Publication/Presentation Date
5-16-1997
Abstract
Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by hypertelorism, macrocephaly, frontal bossing, broad nasal bridge, palate anomalies, hearing deficits, and mental retardation. The radiographic findings include cranial sclerosis, linear striations in the long bones and iliac wings, small poorly aerated sinuses, scoliosis, and increased bone density. The sensory deficits are disabling, but the condition generally is not life threatening. We describe 4 brothers with the characteristics of OS-CS, 3 of whom have died from more serious complications of the disorder. The mother of these children, and her only daughter, have the mildest phenotype with the typical linear striations in the long bones and macrocephaly. OS-CS is thought to be autosomal dominant with complete penetrance and variable expressivity. Our observations could be consistent with X-linkage, since there is milder expression in the female relatives. In addition, we recognize absent fibulae, malrotation, and omphalocele as new manifestations as well as congenital heart disease.
Volume
70
Issue
2
First Page
159
Last Page
165
ISSN
0148-7299
Published In/Presented At
Pellegrino, J. E., McDonald-McGinn, D. M., Schneider, A., Markowitz, R. I., & Zackai, E. H. (1997). Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: an X-linked disorder?. American journal of medical genetics, 70(2), 159–165.
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
9128936
Department(s)
Department of Pediatrics
Document Type
Article